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rs121909181

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909181(A;A)
Make rs121909181(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position2285499
GeneABCA3
is asnp
is mentioned by
dbSNPrs121909181
ebirs121909181
HLIrs121909181
Exacrs121909181
Varsomers121909181
Maprs121909181
PheGenIrs121909181
hapmaprs121909181
1000 genomesrs121909181
hgdprs121909181
ensemblrs121909181
gopubmedrs121909181
geneviewrs121909181
scholarrs121909181
googlers121909181
pharmgkbrs121909181
gwascentralrs121909181
openSNPrs121909181
23andMers121909181
23andMe allrs121909181
SNP Nexus

SNPshotrs121909181
SNPdbers121909181
MSV3drs121909181
GWAS Ctlgrs121909181
Max Magnitude0
OMIM601615
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909181(A;A)
Alt rs121909181(A;A)
Reference rs121909181(G;G)
Significance Pathogenic
Disease Surfactant metabolism dysfunction
Variation info
Gene ABCA3
CLNDBN Surfactant metabolism dysfunction, pulmonary, 3
Reversed 1
HGVS NC_000016.9:g.2335500C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008475.2,